ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827370744
Gene: PGAP2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
50506
ClinVar RCV Id:
RCV000043539
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001333331.1:p.Thr143Ile
CA143757
NM_001346402.2:c.428C>T